Hartnup disease

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Hartnup Disease

Hartnup disease (pronounced: /ˈhɑːtnʌp/) is a rare, inherited metabolic disorder that affects the body's ability to absorb certain amino acids from the diet. The name "Hartnup" is derived from the surname of the family in which the condition was first identified.

Symptoms

The symptoms of Hartnup disease can vary widely among affected individuals. They may include skin rash, photosensitivity, ataxia (difficulty with coordination and balance), and mild intellectual disability. Some individuals may also experience episodes of psychosis or mood disorders.

Causes

Hartnup disease is caused by mutations in the SLC6A19 gene. This gene provides instructions for making a protein that is involved in the transport of certain amino acids, including tryptophan, across cell membranes. Mutations in the SLC6A19 gene disrupt this transport process, leading to the symptoms of Hartnup disease.

Diagnosis

Diagnosis of Hartnup disease is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. These tests may include a urine test to detect elevated levels of certain amino acids, and genetic testing to identify mutations in the SLC6A19 gene.

Treatment

Treatment for Hartnup disease is typically supportive and focuses on managing the symptoms. This may include a high-protein diet, vitamin B3 (niacin) supplements, and sun protection for skin symptoms.

Prognosis

With appropriate management, individuals with Hartnup disease can lead normal, healthy lives. However, the severity of symptoms can vary widely among affected individuals.

External links

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